TNF (Tumor necrosis factor) variants and mutations

TNF (also known as Tumor necrosis factor) is a human protein-coding gene encoding a tumor necrosis factor protein. It coordinates inflammation, fever, immune-cell activation, and cell survival or death through TNF receptors. Excessive TNF signaling is central to diseases such as rheumatoid arthritis and inflammatory bowel disease, making TNF blockade one of the most successful anti-inflammatory treatment strategies. This analysis covers 449 TNF variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes psoriatic arthritis, psoriasis, and rheumatoid arthritis. Example TNF variants include S2N, S2R, and T3A.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable TNF variants

Examples include S2N, S2R, T3A, T3P, T3T, E4G, E4Q, S5N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.